Linked Data
ClinVar Variation Id:
162174
ClinVar RCV Id:
RCV000190311
dbSNP Id:
rs8017304
gnomAD v2:
14-68785077-G-A
gnomAD v3:
14-68318360-G-A
gnomAD v4:
14-68318360-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.68318360G>A , CM000676.2:g.68318360G>A | GRCh38 |
| NC_000014.8:g.68785077G>A , CM000676.1:g.68785077G>A | GRCh37 |
| NC_000014.7:g.67854830G>A | NCBI36 |
| NG_023267.1:g.503569G>A | |
| NG_023267.2:g.503582G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460526.6:c.853+26380G>A | ENSP00000518559.1:n.853+26380G>A | |
| ENST00000471583.6:c.853+26380G>A MANE Select | ENSP00000418859.1:n.853+26380G>A | |
| ENST00000460526.5:n.172+26380G>A | ||
| ENST00000468382.5:n.646+26380G>A | ||
| ENST00000469165.6:n.172+26380G>A | ||
| ENST00000471583.5:c.853+26380G>A | ENSP00000418859.1:n.853+26380G>A | |
| ENST00000478014.5:n.200+26380G>A | ||
| ENST00000479335.5:c.*624+26380G>A | ENSP00000417408.1:n.*624+26380G>A | |
| ENST00000487270.5:c.853+26380G>A | ENSP00000419471.1:n.853+26380G>A | |
| ENST00000487861.5:c.853+26380G>A | ENSP00000419881.1:n.853+26380G>A | |
| ENST00000488612.5:c.853+26380G>A | ENSP00000420061.1:n.853+26380G>A | |
| ENST00000492236.5:n.383+26380G>A | ||
| ENST00000497460.5:n.313+26380G>A | ||
| ENST00000553595.5:n.509+26380G>A | ||
| ENST00000554244.5:n.235+26380G>A | ||
| ENST00000557045.5:n.211+26380G>A | ||
| NM_002877.5:c.853+26380G>A | NP_002868.1:n.853+26380G>A | |
| NM_133509.3:c.853+26380G>A | NP_598193.2:n.853+26380G>A | |
| NM_133510.3:c.853+26380G>A | NP_598194.1:n.853+26380G>A | |
| XM_005267963.2:c.853+26380G>A | XP_005268020.1:n.853+26380G>A | |
| XM_011537047.1:c.853+26380G>A | XP_011535349.1:n.853+26380G>A | |
| XM_011537048.1:c.853+26380G>A | XP_011535350.1:n.853+26380G>A | |
| XM_011537049.1:c.853+26380G>A | XP_011535351.1:n.853+26380G>A | |
| XR_943503.1:n.1224+26380G>A | ||
| NM_001321809.1:c.853+26380G>A | NP_001308738.1:n.853+26380G>A | |
| NM_001321810.1:c.853+26380G>A | NP_001308739.1:n.853+26380G>A | |
| NM_001321812.1:c.853+26380G>A | NP_001308741.1:n.853+26380G>A | |
| NM_001321814.1:c.853+26380G>A | NP_001308743.1:n.853+26380G>A | |
| NM_001321815.1:c.739+26380G>A | NP_001308744.1:n.739+26380G>A | |
| NM_001321817.1:c.496+26380G>A | NP_001308746.1:n.496+26380G>A | |
| NM_001321818.1:c.853+26380G>A | NP_001308747.1:n.853+26380G>A | |
| NM_001321819.1:c.853+26380G>A | NP_001308748.1:n.853+26380G>A | |
| NM_001321821.1:c.853+26380G>A | NP_001308750.1:n.853+26380G>A | |
| XM_017021545.2:c.1147+26380G>A | XP_016877034.1:n.1147+26380G>A | |
| XM_017021546.1:c.550+26380G>A | XP_016877035.1:n.550+26380G>A | |
| XM_017021547.1:c.496+26380G>A | XP_016877036.1:n.496+26380G>A | |
| XM_017021548.1:c.121+26380G>A | XP_016877037.1:n.121+26380G>A | |
| NM_001321817.2:c.496+26380G>A | NP_001308746.1:n.496+26380G>A | |
| NM_002877.6:c.853+26380G>A | NP_002868.1:n.853+26380G>A | |
| NM_133509.4:c.853+26380G>A | NP_598193.2:n.853+26380G>A | |
| NM_133510.4:c.853+26380G>A MANE Select | NP_598194.1:n.853+26380G>A | |
| NM_001321809.2:c.853+26380G>A | NP_001308738.1:n.853+26380G>A | |
| NM_001321810.2:c.853+26380G>A | NP_001308739.1:n.853+26380G>A | |
| NM_001321814.2:c.853+26380G>A | NP_001308743.1:n.853+26380G>A | |
| NM_001321818.2:c.853+26380G>A | NP_001308747.1:n.853+26380G>A | |
| NM_001321821.2:c.853+26380G>A | NP_001308750.1:n.853+26380G>A | |
| NM_133509.5:c.853+26380G>A | NP_598193.2:n.853+26380G>A |